How Did I First Notice Something Was Wrong?

No two cases of Retinitis Pigmentosa (RP) are identical, but there are common symptoms. From reading others’ stories, it seems the two most typical symptoms leading to testing and diagnosis are loss of night vision and decreasing peripheral vision. For me, it was my peripheral vision that I noticed first.

Looking back, knowing what I know now, I’ve had symptoms for maybe 10 years, give or take. About that long ago, I became very easily startled. Sitting at my desk at work or walking around a corner, I would frequently jump because suddenly someone was there and I didn’t see them until they were right there in my face. I also started bumping into things with my shoulders because I misjudged how close I was. At first, I chalked it up to stress, being distracted, and clumsiness. I laughed at myself and my friends and family laughed with me.

About six or seven years ago, I started experiencing what I now know is called photopsia – visual disturbances in my peripheral vision. They are hard to describe, but there are moving, swirling, flashing zigzag lights which I see all the time in my peripheral vision and bright white swirly lines in my central vision, which I only see when going from light to dark or vice versa. I’ve had a history of migraines since I was a child and I occasionally have migraine with aura, which begin with very similar visual annoyances. I figured they must be connected somehow.

About five or six years ago, I started having a hard time with the visual field tests at the optometrist. I didn’t think much of it at first, until I switched optometrists and got one who really cares about her patients and paid attention. Dr. Myra Lew asked questions like, “Do you bump into things more often?” and, “Are you easily startled?” She was concerned and referred me to an ophthalmologist.

Eye Exam, Retinitis Pigmentosa

The Long and Frustrating Road to Diagnosis

Ophthalmologist number one told me he didn’t see anything wrong, so I let it go until my next yearly optometrist visit. She wasn’t as dismissive as I’d been and wanted me to see another ophthalmologist for a second opinion, so I did.

Ophthalmologist number two not only didn’t see anything wrong and went on and on about how beautiful everything looked, he told me there was “absolutely no physical cause” of my symptoms. He told me to come back in three months because he was confident I would have improved by then. His ego seemed to fill the exam room and he was far more concerned with trying to impress the interns watching the exam than actually listening to me. I left there thinking I was crazy. I thought that I was causing my own symptoms in my head, maybe because of anxiety or depression. Maybe life was just too stressful and I was unknowingly blocking things out. I was incredibly hopeless at this point and, no, I did not go back in three months. I knew enough to know that it wasn’t going to magically improve on its own in three months when it had been worsening for several years.

At my next annual eye exam, my optometrist continued to be concerned. My visual field tests were getting worse and she suggested I see a neurologist. I told her I’d think about it, but I felt so defeated that I really didn’t see any purpose. I thought it was a waste of time.

I mentioned all of this to my physician and he offered a referral to a neurologist, which I declined. I was too frustrated at this point and there were other more important matters to worry about, including the loss of my stepdaughter Jennifer, so I pushed this issue aside and just accepted it as a part of my life.

In 2017, I failed the visual field test at my annual eye exam miserably. It was worse than ever and again, my optometrist expressed her concern. I finally called my doctor and asked him to refer me to a neurologist. A month or so later, I had my first visit with her. She did a bunch of tests and didn’t find any obvious cause of my symptoms. She said she wanted me to do three things – have an MRI, see one more ophthalmologist, and get a spinal tap. She referred me to ophthalmologist number three, Dr. Christian Serdahl.

When I went to see Dr. Serdahl, I tried once again to explain my symptoms. By now, I was very irritated and frustrated by the whole situation and I had little to no hope that he’d have any idea what I was trying to describe or what could possibly cause it. I’d already been Googling my symptoms every so often for years and I’d found nothing. Of course, without knowing what these squiggly zig zag lights I was seeing were called, I hadn’t found anything at all. Immediately, he asked me if in my research I’d ever read about RP. I had never even seen or heard the words retinitis pigmentosa. He wrote it down for me, told me not to see doom and gloom after I Googled it at home, and referred me to a retinal specialist. I left with some hope for the first time.

I Googled RP before we’d even pulled out of the parking lot and I thought, “This might be it!” I joined a couple RP Facebook groups and read post after post after post. Some sounded similar and some didn’t, so I made my own post. I described my symptoms and everyone commented, “Me, too.”

After I saw the first specialist, the diagnosis was confirmed and I was referred to another specialist, Dr. David Telander. Dr. Telander is wonderful. He’s compassionate and friendly and extremely knowledgeable about RP. He’s very involved in RP research and got me into a clinical trial to (hopefully) determine my gene mutation. My blood was drawn for DNA testing on 12/11/2017 and I had an ERG on 1/30/2018.

Many in the RP Facebook groups experience depression when they’re diagnosed, but I was HAPPY! What a relief to finally know what I’m facing and to prove to myself and everyone else that I’m not crazy. I’m not doing this to myself subconsciously. There IS a physical cause of my symptoms.

Now I am anxiously awaiting my DNA results, which should be ready any day, my genetic counseling on March 8, and my follow-up appointment with Dr. Telander on March 19. This is all so fascinating and exciting to me, I can’t wait to get all the results from my ERG and of course, the DNA results.

I’m just hoping I didn’t pass it down to my kids…